Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

glutamate decarboxylase 1
GAD25,  Gad-1,  EP10,  GAD67,  GAD44,  Z49976

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gad1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gad1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 89
Long philtrum, Microretrognathia, Thin upper lip vermilion, Smooth philtrum, Cleft palate, Neonat... OMIM:619124

The table below shows human diseases predicted to be associated to Gad1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Cleft palate OMIM:119550
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Perching Syndrome
Cyanosis, High palate, Respiratory distress, Dysphagia, Feeding difficulties OMIM:617055
Uvula, Bifid
Bifid uvula OMIM:192100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Death in infancy, Protracted diarrhea, Malnutrition, Abnormal intestine morpholo... OMIM:251850
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Aspiration pneumonia, Gastrostomy tube feeding in infancy, R... ORPHA:141152
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... OMIM:601068
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
2q33.1 deletion syndrome
Inguinal hernia, Cleft palate, High palate DECIPHER:51
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abdominal distention, Abnormal circulating enz... ORPHA:103909
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... ORPHA:70589
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Diffuse reticular ... ORPHA:2302
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Choking episodes, Respiratory distress, Recurrent pneumonia, Abnormal ... ORPHA:60032
Cleft Soft Palate
Cleft soft palate OMIM:119570
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Acute Interstitial Pneumonia
Cyanosis, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... OMIM:610921
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival recession, Periodontitis, Gingival fragility, Inguinal hernia, Colon cancer, Gingival bl... OMIM:617174
Chronic Hiccup
Abnormal eating behavior, Malnutrition, Dehydration ORPHA:396
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... ORPHA:103907
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Umbilical hernia, Accessory oral frenulum ORPHA:1373
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... OMIM:267450
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Poor suck, Agenesis of lateral incisor, ... ORPHA:199306
Pierre Robin Syndrome
Pierre-Robin sequence, Feeding difficulties in infancy, Upper airway obstruction, Neonatal respir... OMIM:261800
Stillbirth OMIM:265880
Laryngotracheal Angioma
Cyanosis, Vomiting, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Feeding... ORPHA:137935
Congenital Pancreatic Cyst
Vomiting, Abdominal pain, Jaundice, Abdominal distention, Anorexia ORPHA:313906
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Omphalocele, Bifid uvula OMIM:258320
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Neonatal deat... OMIM:265120
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Phosphoserine Aminotransferase Deficiency
Apnea, Feeding difficulties, Cyanotic episode, Death in infancy OMIM:610992
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, High palate, Diarrhea, Projectile vomiting, Abdominal distenti... OMIM:620045
Hyperekplexia 4
Distal arthrogryposis, Flexion contracture, High palate, Camptodactyly, Inguinal hernia, Umbilica... OMIM:618011
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... ORPHA:91359
Infant Acute Respiratory Distress Syndrome
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... ORPHA:70587
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Vomiting, Diarrhea, Abdominal distention ORPHA:35122
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Impaired oropharyngeal swallow response, Choking episodes, Cough, Dyspnea, ... ORPHA:2004
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea, Dehydration OMIM:610370
Glycosylphosphatidylinositol Biosynthesis Defect 11
High palate, Macroglossia, Inguinal hernia, Tented upper lip vermilion, Umbilical hernia OMIM:616025
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... OMIM:616726
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Parenchymal consolidation, Elevated bronchoalveolar lavage fluid neutrophi... OMIM:610978
Idiopathic Chronic Eosinophilic Pneumonia
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Hypoxemia, Pleura... ORPHA:2902
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uvula, Cleft palate, Omphalocele, Unilateral cleft lip ORPHA:2736
Primary Effusion Lymphoma
Pleural effusion, Abdominal pain, Dyspnea, Abdominal distention ORPHA:48686
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper res... OMIM:263000
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Diastasis recti, Gingival bleeding, Umbilical hernia OMIM:606893
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Anorexia, Restrictive ventilat... ORPHA:1302
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... OMIM:615237
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Abnormal pulmonary thoracic ... ORPHA:70588
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Vomiting, Dependency on parenteral nutrition, Bronchiectasis, Villou... OMIM:619445
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Death in infancy, Jaundice, Elevated hepatic transaminase, Abdominal distention,... OMIM:618528
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... OMIM:610913
Bronchogenic Cyst
Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Abdomina... ORPHA:2357
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration, Dyspnea, Abdominal distention OMIM:174050
Apnea, Central Sleep
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration OMIM:207720
Immunodeficiency 95
Recurrent respiratory infections, Respiratory distress, Respiratory failure, Recurrent viral uppe... OMIM:619773
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Cleft Palate, Isolated
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Combined Malonic And Methylmalonic Aciduria
Vomiting, Diarrhea, Dehydration OMIM:614265
Cleft Velum
Poor suck, Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Nasal regu... ORPHA:99772
Neuralgic Amyotrophy
Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis ORPHA:2901
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Poor suck, ... OMIM:616974
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Umbilical hernia, Downturned corners of mouth, High, narrow palate, Wide mouth OMIM:273390
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Edema, Dehydration, Protein-losing enteropathy, Hematochezia ORPHA:103910
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Pulmonary fibrosis, Dysphagia, Increased circulating lactate dehydrogenase co... ORPHA:254361
Pleural Mesothelioma
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... ORPHA:50251
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Muscular Hypertonia, Lethal
Umbilical hernia OMIM:254120
Developmental And Epileptic Encephalopathy 30
Feeding difficulties, Respiratory distress, Death in infancy OMIM:616341
Isolated Polycystic Liver Disease
Respiratory insufficiency, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pa... ORPHA:2924
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Respiratory distress, Apnea,... OMIM:614669
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Atelectasis OMIM:300455
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Familial Cold Urticaria
Nausea and vomiting, Abdominal pain, Erythema, Dehydration, Polydipsia, Urticaria ORPHA:47045
Thyroid Hemiagenesis
Jaundice, Constipation, Abdominal distention, Macroglossia ORPHA:95719
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... OMIM:610910
Myotubular Myopathy With Abnormal Genital Development
High palate, Death in infancy, Respiratory distress, Feeding difficulties, Neonatal death, Atelec... OMIM:300219
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Poor suck, Feeding difficulties in infancy, Respiratory distress, Apneic episodes precipitated by... OMIM:605809
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia OMIM:617732
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... ORPHA:1991
Myasthenic Syndrome, Congenital, 6, Presynaptic
Poor suck, Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dyspha... OMIM:254210
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Gastroesophageal reflux, High palate, Tongue fasciculations, Respirato... OMIM:614399
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... ORPHA:1303
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
X-Linked Ehlers-Danlos Syndrome
Inguinal hernia, Hernia, Umbilical hernia ORPHA:75497
Adiposis Dolorosa
Painful subcutaneous lipomas, Constipation, Abdominal distention OMIM:103200
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Dysphagi... OMIM:619751
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Neonatal death, Vomiting, Dehydration OMIM:602199
Fetal Minoxidil Syndrome
Umbilical hernia ORPHA:1918
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hypertonic dehydration, Hyperactive bowel sounds, Chronic di... OMIM:606824
Secondary Short Bowel Syndrome
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... ORPHA:95427
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Choanal Atresia
Cyanosis, Abnormal nasal mucus secretion, Choking episodes, Respiratory distress, Chronic sinusit... ORPHA:137914
Enteric Anendocrinosis
Malabsorption, Vomiting, Diarrhea, Dehydration ORPHA:83620
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2521
Central Diabetes Insipidus
Diarrhea, Nausea and vomiting, Anorexia, Dehydration, Polydipsia ORPHA:178029
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Diffuse reticular or finely nodular infiltrations, Respiratory tract infection, Chronic bronchiti... ORPHA:79127
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Macroglossia, Umbilical hernia OMIM:275100
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, Inguinal hern... OMIM:614608
Birk-Barel Syndrome
High palate, Feeding difficulties in infancy, Reduced subcutaneous adipose tissue, Bifid uvula, S... OMIM:612292
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:79159
Thyroid Dyshormonogenesis 1
Macroglossia, Umbilical hernia OMIM:274400
Avian Influenza
Pulmonary infiltrates, Increased circulating lactate dehydrogenase concentration, Vomiting, Pneum... ORPHA:454836
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia, Recurrent respiratory in... ORPHA:77260
Porphyria Due To Ala Dehydratase Deficiency
Respiratory insufficiency, Diarrhea, Abdominal pain, Ventilator dependence with inability to wean... ORPHA:100924
Congenital Disorder Of Glycosylation, Type Iu
High palate, Death in infancy, Elevated hepatic transaminase, Respiratory distress, Thin upper li... OMIM:615042
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Respiratory distress, Abdominal distention, Macroglossia, Consti... ORPHA:226313
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Vomiting, Secretory diarrhea, Dehydration OMIM:616069
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Long philtrum, Thin upper lip vermilion, Inguinal hernia, Smooth philtrum, Umbilical... OMIM:613544
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Lethal Osteosclerotic Bone Dysplasia
Gingival fibromatosis, Respiratory distress, Median cleft lip and palate, Dyspnea, Respiratory fa... ORPHA:1832
Volvulus Of Midgut
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Intestinal malrotation, Constipa... OMIM:193250
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d... ORPHA:747
Split-Hand/Foot Malformation 3
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate OMIM:246560
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Feeding difficulties in infancy, Tongue fasciculations, Respiratory di... ORPHA:238329
Atresia Of Small Intestine
Vomiting, Jejunal atresia, Abdominal distention, Intestinal malrotation, Intestinal hypoplasia, F... ORPHA:1201
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Re... ORPHA:2257
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Diarrhea, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleu... ORPHA:411703
Maculopapular Cutaneous Mastocytosis
Darier's sign, Vomiting, Diarrhea, Dermatographic urticaria, Elevated total serum tryptase, Abdom... ORPHA:79457
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Nasogastric tube feeding in infancy, High palate, Poor suck, Ventilator dependence with inability... ORPHA:254864
Intellectual Developmental Disorder, Autosomal Dominant 26
Deep philtrum, Wide mouth, Short philtrum, Inguinal hernia, Narrow mouth, Arthrogryposis multiple... OMIM:615834
Letterer-Siwe Disease
Pulmonary infiltrates, Jaundice, Stomatitis, Abdominal distention, Dyspnea OMIM:246400
Hypoglossia With Situs Inversus
High palate, Feeding difficulties in infancy, Hypodontia, Respiratory distress, Malnutrition, Upp... OMIM:612776
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Acute Lung Injury
Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distres... ORPHA:178320
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malabsorption, Abdominal pain, Abdominal distention, Malnutrition, Gastrointestinal dysmotility, ... OMIM:613662
Aminopterin Syndrome Sine Aminopterin
High palate, Joint contracture of the hand, Oligodontia, Inguinal hernia, Cleft palate, Umbilical... OMIM:600325
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Gastroesophageal reflux, Cyanosis, Respiratory distress, Chronic... ORPHA:2414
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Tented upper lip vermilion, Atelectasis ORPHA:896
Feeding difficulties, Constipation, Abdominal distention, Macroglossia ORPHA:95713
Laryngeal Abductor Paralysis
Cyanosis, Stridor, Dysphagia OMIM:150260
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, Cleft palate, High, narrow palate, Arthrogryposis mult... OMIM:201550
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Open mouth, Abnormal oral cavity morphology, Short philtrum, Umbilical hernia ORPHA:1516
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Long philtrum, Dehydration OMIM:618958
Staphylococcal Necrotizing Pneumonia
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural empyema, Hypoxemia, Respi... ORPHA:36238
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Bronchiectasis, Elevated hepatic transaminase, Chronic pulmonary obstruction,... OMIM:613490
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Umbilical hernia ORPHA:2349
Congenital Tufting Enteropathy
Vomiting, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal... ORPHA:92050
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Ce... ORPHA:199241
Combined Malonic And Methylmalonic Acidemia
Vomiting, Intermittent diarrhea, Nasogastric tube feeding, Dehydration ORPHA:289504
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Arthrogryposis multiplex congenita, Natal tooth OMIM:217150
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Frank-Ter Haar Syndrome
Camptodactyly of finger, Wide mouth, Delayed eruption of teeth, Short philtrum, Inguinal hernia, ... ORPHA:137834
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... ORPHA:2972
Anencephaly 2
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip OMIM:619452
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Permanent Congenital Hypothyroidism
Jaundice, Macroglossia, Abdominal distention, Constipation, Feeding difficulties ORPHA:226292
X-Linked Centronuclear Myopathy
High palate, Poor suck, Recurrent respiratory infections, Feeding difficulties in infancy, Respir... ORPHA:596
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Delayed eruption of teeth, Micrognathia, Dehydration, Carious teeth, Thin vermilio... OMIM:214150
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Diarrhea, Long philtrum, Death in infancy, Abdominal distention, Decreased liver functi... OMIM:608104
Idiopathic Pulmonary Fibrosis
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchie... ORPHA:2032
Reticular Dysgenesis
Malabsorption, Diarrhea, Dehydration ORPHA:33355
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Diarrhea, Abdominal pain, Abdominal distention, Constip... ORPHA:160148
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
High, narrow palate, Umbilical hernia ORPHA:2181
Cardiocranial Syndrome, Pfeiffer Type
Plantar flexion contracture, Bifid uvula, Contracture of the proximal interphalangeal joint of th... ORPHA:2872
Adams-Oliver Syndrome 4
Umbilical hernia OMIM:615297
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower... ORPHA:915
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Restrictive Dermopathy 2
Cyanosis, Gastroesophageal reflux, Hypoplastic facial bones, Microretrognathia, Feeding difficult... OMIM:619793
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Pulm... OMIM:234810
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Vomiting, Diarrhea, Small intestinal dysmotility, Poor appetite, Abdomin... ORPHA:298
Congenital Tracheomalacia
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... ORPHA:95430
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ectopic anus, Spina bifida, Gastroschisis, Anencephaly, Cleft palate ORPHA:2476
Maxillonasal Dysplasia
Mandibular prognathia, Microdontia, Hypoplasia of the maxilla, Tooth agenesis, Cleft palate, Open... ORPHA:1248
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Swollen lip, Upper airway obstruction, Erythema, Tongue edema, Angioedema, ... ORPHA:100057
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Short philtrum, Inguinal hernia, Narrow mouth, Joint contracture o... ORPHA:352490
Malignant Peritoneal Mesothelioma
Abdominal pain, Dyspnea, Abdominal distention, Ileus ORPHA:168811
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Episodic abdominal pain, Facial telangiectasia, Diarrhea, Elevated alkalin... ORPHA:100085
Hereditary Angioedema Type 1
Vomiting, Diarrhea, Dermatographic urticaria, Abnormal uvula morphology, Intestinal edema, Abdomi... ORPHA:100050
Achondrogenesis, Type Ib
Respiratory insufficiency, Stillbirth, Abdominal distention OMIM:600972
Congenital Disorder Of Glycosylation, Type Iy
Feeding difficulties, Respiratory distress, Wide mouth, Widely spaced teeth OMIM:300934
Spondylocostal Dysostosis 1, Autosomal Recessive
Recurrent respiratory infections, Death in infancy, Abdominal distention, Protuberant abdomen OMIM:277300
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Dehydration ORPHA:28
Isolated Cleft Lip
Supernumerary maxillary incisor, Non-midline cleft lip, Bilateral cleft lip, Hypodontia, Velophar... ORPHA:199302
Lujo Hemorrhagic Fever
Rhinitis, Vomiting, Diarrhea, Fulminant hepatitis, Abdominal cramps, Purpura, Respiratory distres... ORPHA:319213
Primary Ciliary Dyskinesia
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... ORPHA:244
Coffin-Siris Syndrome 11
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... OMIM:618779
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Qazi-Markouizos Syndrome
Chronic constipation, Abdominal distention, Hypoplasia of teeth, Open mouth, High, narrow palate,... ORPHA:3010
Autosomal Agammaglobulinemia
High palate, Diarrhea, Malabsorption, Sinusitis, Dehydration ORPHA:33110
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Gastroesophageal reflux, Nasal regurgitation, High palat... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Gastroesophageal reflux, Nasal regurgitation, High palat... ORPHA:98914
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Primary Peritoneal Carcinoma
Abdominal pain, Constipation, Abdominal distention, Nausea and vomiting ORPHA:168829
Inguinal hernia, Long philtrum, Umbilical hernia ORPHA:932
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology, Abdominal distentio... ORPHA:2290
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Feeding difficulties in infancy, Ventilator dependence with inability ... ORPHA:254875
Liver Failure, Infantile, Transient
Elevated circulating alanine aminotransferase concentration, Vomiting, Death in infancy, Feeding ... OMIM:613070
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Chronic constipation, Mandibular prognathia, High palate OMIM:300676
Autosomal Dominant Hyper-Ige Syndrome
Gingivitis, Delayed eruption of teeth, Cough, Cleft palate, Recurrent respiratory infections, Gen... ORPHA:2314
Ovarian Fibroma
Pleural effusion, Odontogenic keratocysts of the jaw, Abdominal pain, Abdominal distention ORPHA:314473
Breath-Holding Spells
Cyanosis OMIM:607578
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Macroglossia, Abdominal distention, Bruising suscepti... ORPHA:85443
Glucose-Galactose Malabsorption
Vomiting, Diarrhea, Abdominal distention, Malnutrition, Hyperactive bowel sounds, Dehydration ORPHA:35710
Respiratory insufficiency, Increased circulating lactate dehydrogenase concentration, Parenchymal... ORPHA:723
Hypoadrenocorticism, Familial
Apnea, Feeding difficulties in infancy, Vomiting, Cyanosis OMIM:240200
Acquired Methemoglobinemia
Cyanosis, Vomiting, Abdominal pain, Hypoxemia, Respiratory distress, Dyspnea ORPHA:464453
Sepsis In Premature Infants
Cyanosis, Vomiting, Enterocolitis, Diarrhea, Petechiae, Functional abnormality of the gastrointes... ORPHA:90051
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Camptodactyly, Umbilical hernia OMIM:618786
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Umbilical hernia ORPHA:1035
Anaplastic Thyroid Carcinoma
Respiratory distress, Tracheoesophageal fistula, Upper airway obstruction, Dyspnea, Cough, Strido... ORPHA:142
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vit... ORPHA:98913
Lujan-Fryns Syndrome
High palate, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Attention deficit hyperacti... ORPHA:776
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Abdominal pain, Anorexia, Dehydration, Feeding difficulties ORPHA:79312
Farber Disease
Respiratory insufficiency, Hepatic failure, Nodular pattern on pulmonary HRCT, Elevated hepatic t... ORPHA:333
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... OMIM:178500
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Vomiting, Diarrhea, Death in adolescence, Dehydration, Death in childhood OMIM:560000
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress OMIM:615993
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Difficulty in tongue movements, Respiratory tract infection, Elevated ... ORPHA:365
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Vomiting, Diarrhea, Respiratory distress, Feeding difficulties OMIM:612075
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Poor suck, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress, Abdominal distention ORPHA:79097
Rin2 Syndrome
Irregular dentition, High palate, Long philtrum, Abnormal lip morphology, Gingival overgrowth, Um... ORPHA:217335
Solar Urticaria
Dermatographic urticaria, Abnormal lip morphology, Dyspnea, Nausea, Abnormal tongue morphology, A... ORPHA:97230
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Inguinal hernia, Umbilical hernia ORPHA:2196
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Elevated hepatic transaminase, Respiratory distress, Respiratory insufficiency due to ... OMIM:613561
Achondrogenesis Type 1B
Umbilical hernia, Long philtrum, Femoral hernia ORPHA:93298
Niemann-Pick Disease, Type A
Elevated circulating alanine aminotransferase concentration, Vomiting, Feeding difficulties in in... OMIM:257200
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Vomiting, Diarrhea, Dehydration OMIM:264350
Congenital Diaphragmatic Hernia
Intestinal malrotation, Pulmonary hypoplasia, Hypoxemia, Respiratory distress ORPHA:2140
Nipah Virus Disease
Nausea and vomiting, Recurrent pharyngitis, Respiratory distress, Anorexia, Cough ORPHA:99825
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin vermilion border, Cleft palate, U... OMIM:612938
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Diastasis recti, High palate, Short philtrum, Everted lower lip vermilion, Thin upper lip vermili... OMIM:616579
Ehlers-Danlos Syndrome, Periodontal Type, 1
Gingival recession, Intestinal perforation, Alveolar bone loss around teeth, Periodontitis, Gingi... OMIM:130080
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Lip pit, Cleft palate ORPHA:1072
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Oligodontia, Dental crowding, ... OMIM:616331
Wolman Disease
Hepatic failure, Nausea and vomiting, Steatorrhea, Abdominal distention, Malnutrition, Esophageal... ORPHA:75233
Achondrogenesis Type 1A
Umbilical hernia, Long philtrum, Femoral hernia ORPHA:93299
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Feeding difficulties in infancy, Pyloric stenosis... OMIM:300048
Dental Anomalies And Short Stature
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... OMIM:601216
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth OMIM:156510
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Feeding difficulties, Respiratory distress, Pulmon... OMIM:616733
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Midline central nervous system lipomas, Bifid uvula, High palate, Median cleft lip OMIM:155145
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... OMIM:614370
Esophageal Atresia
Cyanosis, Feeding difficulties in infancy, Pulmonary hypoplasia, Dysphagia, Cleft palate, Bronchi... ORPHA:1199
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio... ORPHA:60025
Meckel Syndrome, Type 8
Cleft palate, Cleft upper lip, Abdominal distention OMIM:613885
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Hyperactivity, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Tongue atrophy, Respiratory distress, Dyspn... OMIM:211530
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Non-midline cleft lip, Cleft palate, Abnormality of the philtrum ORPHA:1770
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Micrognathia, Dental crowding, Hypoplasia of the maxilla, Tris... OMIM:616367
Hereditary Methemoglobinemia
Cyanosis, Lip discoloration, Exertional dyspnea ORPHA:621
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Death in infancy, Jaundice, Elevated hepatic transaminase, Respiratory distress,... OMIM:617156
Axenfeld-Rieger Syndrome, Type 2
Microdontia, Hypodontia, Short philtrum, Everted lower lip vermilion, Inguinal hernia, Umbilical ... OMIM:601499
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Feeding difficulties, Vomiting, Diarrhea, Dehydration OMIM:177735
Microcephaly 30, Primary, Autosomal Recessive
Inguinal hernia, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Auriculocondylar Syndrome
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Bifid uvula, ... ORPHA:137888
Snijders Blok-Campeau Syndrome
Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Inguinal hernia, Umbilical hernia OMIM:618205
Mesomelia-Synostoses Syndrome
Long philtrum, Abnormal oral frenulum morphology, Narrow mouth, High, narrow palate, Umbilical he... ORPHA:2496
Succinic Acidemia
Respiratory distress OMIM:600335
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Hepatic failure, Vomiting, Elevated circulating alanine aminotransferas... OMIM:278000
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Pulmonary arterial hypertension, Gastroesophageal reflux, Hypoventilat... ORPHA:258
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Smith-Kingsmore Syndrome
Diastasis recti, Long philtrum, Wide mouth, Thin upper lip vermilion, Smooth philtrum, Open mouth... OMIM:616638
Respiratory distress, Nausea and vomiting ORPHA:673
Pelger-Huet Anomaly
Abnormality of the dentition, Gingival overgrowth, Umbilical hernia, Median cleft palate OMIM:169400
Fanconi-Bickel Syndrome
Poor appetite, Malabsorption, Reduced subcutaneous adipose tissue, Generalized aminoaciduria, Abd... OMIM:227810
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar... OMIM:277320
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Dehydration OMIM:602722
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Gastroesophageal reflux, Vomiting, Poor suck, Death in infancy, Respiratory distress, A... OMIM:618426
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia ORPHA:2400
Thyroid Hypoplasia
Jaundice, Constipation, Abdominal distention, Macroglossia ORPHA:95720
Chronic Beryllium Disease
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... ORPHA:133
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Polydipsia OMIM:125800
Hypercalcemia, Infantile, 1
Vomiting, Dehydration OMIM:143880
Silver-Russell Syndrome Due To 11P15 Microduplication
Umbilical hernia ORPHA:231144
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Polydipsia OMIM:304800
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Long philtrum, Cleft soft palate, Camptodactyly, Absent uvula, Triangular mouth, ... OMIM:618529
Bladder Exstrophy
Abnormality of the anus, Intestinal malrotation, Inguinal hernia, Bladder exstrophy, Omphalocele,... ORPHA:93930
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Corticosterone Methyloxidase Type I Deficiency
Feeding difficulties in infancy, Vomiting, Dehydration OMIM:203400
Intestinal perforation, Bloody diarrhea, Vomiting, Hepatic failure, Paralytic ileus, Abdominal pa... ORPHA:810
Isovaleric Acidemia
Vomiting, Dehydration OMIM:243500
Intellectual Developmental Disorder, Autosomal Dominant 43
High palate, Short philtrum, Thin upper lip vermilion, Narrow mouth, Increased overbite, Gingival... OMIM:616977
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dyspnea, Stridor, Dysphagia ORPHA:97285
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum ORPHA:90653
Inflammatory Pseudotumor Of The Liver
Elevated circulating alanine aminotransferase concentration, Vomiting, Abdominal pain, Abdominal ... ORPHA:90003
Luo-Schoch-Yamamoto Syndrome
Wide mouth, Short philtrum, Narrow mouth, Widely-spaced maxillary central incisors, Umbilical her... OMIM:619460
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Bifid uvula, Submucous cleft hard palate OMIM:601492
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Pursed lips, Malar flattening, Aglossia OMIM:241310
Distal Xq28 Microduplication Syndrome
High palate, Short lingual frenulum, Thick lower lip vermilion, Predominantly lower limb lymphede... ORPHA:293939
Multiple Carboxylase Deficiency
Decreased circulating biotinidase concentration, Respiratory distress, Abnormal circulating enzym... ORPHA:148
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Abdominal distention ORPHA:369
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, High palate, Respiratory distress, Recurrent acute respiratory tract inf... OMIM:620011
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia ORPHA:95717
Intestinal Botulism
Diarrhea, Nausea and vomiting, Death in infancy, Dyspnea, Xerostomia, Dysphagia, Respiratory insu... ORPHA:178481
Pneumothorax, Diarrhea, Pleural effusion, Gastritis, Colitis, Hematemesis, Unusual gastrointestin... ORPHA:73263
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Congenital dia... ORPHA:63862
Mitochondrial Pyruvate Carrier Deficiency
Long philtrum, Thin upper lip vermilion, Respiratory distress OMIM:614741
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Sialidosis Type 2
Inguinal hernia, Flexion contracture, Umbilical hernia ORPHA:87876
Malabsorption, Vomiting, Polydipsia, Dehydration ORPHA:213
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Short philtrum, Inguinal hernia, High palate, Umbilical hernia OMIM:618354
Joint Laxity, Short Stature, And Myopia
Inguinal hernia, Umbilical hernia OMIM:617662
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Acrocyanosis, Chronic diarrhea, Feeding difficulties OMIM:602473
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Widely spaced teeth, Camptodactyly, Macroglossia, Downturned corners of ... ORPHA:369891
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Lobulated tongue, Natal tooth, Pulmonary hypoplasia, Median cleft lip ... OMIM:269860
Lead Poisoning
Vomiting, Delayed eruption of teeth, Asthma, Abdominal pain, Abdominal cramps, Abnormal respirato... ORPHA:330015
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Everted lower lip vermilion, Tooth agenesis, Shagreen patch,... ORPHA:2963
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Dehydration OMIM:620126
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Double Outlet Right Ventricle
Cyanosis, Submucous cleft hard palate, Intestinal malrotation, Narrow mouth, Pulmonary artery atr... ORPHA:3426
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Long philtrum, Death in infancy, Pyloric stenosis, Pulmonary hypoplasia,... OMIM:613177
Combined Oxidative Phosphorylation Deficiency 19
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Poor suck, ... OMIM:615595
Opitz Gbbb Syndrome
Cleft upper lip, High palate, Anal atresia, Solitary median maxillary central incisor, Thin upper... OMIM:300000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Micrognathia, Jaundice, Oligohydramnios, Dehydration OMIM:208085
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Knee flexion contracture, Hip contracture, Long philtrum, Elbow flexion contracture, Camptodactyl... OMIM:616266
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia, Anal atresia ORPHA:93950
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, High palate, Death in infancy, Pulmonary lymphangiectasia, Abdominal distention,... OMIM:235255
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Pneumo... OMIM:244400
Short Chain Acyl-Coa Dehydrogenase Deficiency
Feeding difficulties, Respiratory distress ORPHA:26792
Propionic Acidemia
Vomiting, Poor appetite, Feeding difficulties in infancy, Constipation, Dehydration OMIM:606054
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, High palate, Umbilical hernia ORPHA:284180
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Difficulty in tongue movements, Respiratory tract infection, Elevated ... ORPHA:308552
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Respiratory distress ORPHA:240085
Alternating Hemiplegia Of Childhood
Vomiting, Diarrhea, Aspiration, Respiratory distress, Abdominal distention, Flushing, Apnea, Anor... ORPHA:2131
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Thin vermilion border, Long philtrum, Umbilical hernia ORPHA:171839
Mirizzi Syndrome
Vomiting, Abdominal colic, Abdominal pain, Jaundice, Elevated hepatic transaminase, Abdominal dis... ORPHA:521219
Cleft palate, Respiratory distress ORPHA:66637
Acrocallosal Syndrome
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle... OMIM:200990
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Dehydration OMIM:251120
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Purpura, Acrocyanosis, Intestinal obstru... ORPHA:343
Benign Familial Neonatal Epilepsy
Apnea, Gastroesophageal reflux, Circumoral cyanosis ORPHA:1949
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the maxilla, Thin upper lip vermilion, Widely-spaced incisors, Smooth philtrum OMIM:618737
Congenital Hypothyroidism
Feeding difficulties in infancy, Macroglossia, Abdominal distention, Tracheoesophageal fistula, S... ORPHA:442
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Camptodactyly of finger, Long philtrum, Spina bifida occulta, Inguinal hernia, Conge... ORPHA:2311
Carnitine Deficiency, Systemic Primary
Vomiting, Diarrhea, Dehydration OMIM:212140
Idiopathic Hypereosinophilic Syndrome
Feeding difficulties in infancy, Elevated hepatic transaminase, Pleural effusion, Chronic diarrhe... ORPHA:3260
Oculocerebrofacial Syndrome, Kaufman Type
Wide mouth, Microdontia, Abnormal lip morphology, Short philtrum, Respiratory distress, Abnormal ... ORPHA:2707
Down Syndrome
Narrow palate, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Macroglossia, Anal ... ORPHA:870
Orofaciodigital Syndrome Xix
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Microdontia, Hyp... OMIM:620107
Diffuse Alveolar Hemorrhage
Pulmonary infiltrates, Hypoxemia, Ground-glass opacification, Restrictive ventilatory defect, Air... ORPHA:90060
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, High palate, Exertio... ORPHA:98915
Cirrhosis, Familial
Pulmonary arterial hypertension, Fulminant hepatitis, Jaundice, Abdominal distention, Esophageal ... OMIM:215600
Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, High palate, Hip contracture, Deep philtrum, Joint contracture of the ... OMIM:255800
Hereditary Hyperekplexia
Esophagitis, Umbilical hernia, Hernia, Hiatus hernia ORPHA:3197
Pulmonary infiltrates, Pneumothorax, Abdominal pain, Emphysema, Restrictive ventilatory defect, D... ORPHA:538
Gaucher Disease, Type Ii
Gastroesophageal reflux, Recurrent aspiration pneumonia, Death in infancy, Apnea, Cough, Stridor,... OMIM:230900
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Micrognat... ORPHA:284417
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Abdominal pain, Increased intestinal transit time, Ep... OMIM:619377
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Respirato... ORPHA:2759
Beta-Ketothiolase Deficiency
Oral aversion, Vomiting, Diarrhea, Agitation, Edema, Anorexia, Dehydration ORPHA:134
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Wide mouth, Diastema, Thin upper lip vermilion, Downturned corners of mouth, Inguinal hernia, Smo... ORPHA:329224
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, High palate, Abnormality of dental morphology, Open bite, Umbilical hernia ORPHA:3079
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Median cleft lip, Hypoplasia of the maxilla, Widely-spaced maxillary... OMIM:136760
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Feeding difficulties, Bifid uvula, Submucous cleft hard palate, Hyperactivity OMIM:619239
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Long philtrum, Microretrognathia, Edema, Stillbirth, Cleft palat... OMIM:200610
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Episodic abdominal pain, Elevated alkaline phosphatase of hepatic origin, ... ORPHA:100086
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Cleft palate, Long philtrum, Umbilical hernia ORPHA:2505
Visceral Myopathy 1
Vomiting, Diarrhea, Megaduodenum, Aganglionic megacolon, Abdominal pain, Microcolon, Abdominal di... OMIM:155310
Chiari Malformation Type Ii
Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia OMIM:207950
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Pulmonary infiltrates, Oral ulcer, Abnormal pulmonary thoracic imaging finding, Respiratory distr... ORPHA:3392
Pediatric Systemic Lupus Erythematosus
Oral ulcer, Vomiting, Diarrhea, Abdominal pain, Abdominal distention, Pleural effusion, Dyspnea, ... ORPHA:93552
High palate, Long philtrum, Macroglossia, Thin upper lip vermilion, Attention deficit hyperactivi... OMIM:269921
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Malar flattening, Feeding diffi... ORPHA:79113
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog... OMIM:612387
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Dental crowding, Persistence of primary teeth, Hiatus hernia OMIM:619769
Cantu Syndrome
Thick upper lip vermilion, Long philtrum, Thick lower lip vermilion, Gingival overgrowth, Umbilic... OMIM:239850
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Umbilical hernia OMIM:618272
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Acute Intermittent Porphyria
Respiratory insufficiency, Diarrhea, Respiratory paralysis, Nausea and vomiting, Weakness of musc... ORPHA:79276
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Volvulus, Abdominal pain, Bruising susceptibility, Gingival bl... ORPHA:335
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Narrow mouth, Long philtrum ORPHA:261295
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin vermilion border, Feeding difficulties, Short philtrum, Respiratory distress ORPHA:261304
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration OMIM:261680
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide mouth, Thick lower lip vermilion, Everted lower lip vermilion, Umbilica... ORPHA:85321
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Hypodontia, Submucous cleft hard palate, High, narrow palate, Glossoptosis ORPHA:3201
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Poor appetite, Reye syndrome-like episodes, Respiratory distress, Agitation, ... ORPHA:927
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Dehydration ORPHA:27
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, Macroglossia, Ing... ORPHA:254528
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleu... ORPHA:2038
Spondylometaphyseal Dysplasia, Schmidt Type
Gastroesophageal reflux, Polyhydramnios, Nasogastric tube feeding in infancy, Gastrostomy tube fe... ORPHA:93316
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Respiratory distress, Carious teeth, Protuberant abdomen, Thick vermilion bo... OMIM:617102
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Restlessness OMIM:300266
Hyperchlorhidrosis, Isolated
Feeding difficulties, Hypernatremic dehydration OMIM:143860
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Nasogastric tube feeding in infancy, Ectodermal dysplasia, Cleft upper lip, Select... OMIM:106260
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate ORPHA:85279
Hereditary Fructose Intolerance
Reduced circulating aldolase concentration, Vomiting, Diarrhea, Abdominal pain, Jaundice, Abdomin... ORPHA:469
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Joint contracture of the hand, Camptodactyly of toe, Umbilical hernia OMIM:175700
Vomiting, Palmoplantar cutis laxa, Diarrhea, Achlorhydria, Abdominal pain, Abdominal cramps, Misc... ORPHA:173
Peritoneal Cystic Mesothelioma
Abdominal pain, Constipation, Abdominal distention ORPHA:168816
Angelman Syndrome
Hyperactivity, Mandibular prognathia, Wide mouth, Widely spaced teeth, Feeding difficulties in in... OMIM:105830
Early-Onset Familial Hypoaldosteronism
Feeding difficulties, Vomiting, Dehydration ORPHA:556030
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Deep philtrum, Thin vermilion border, Exaggerated cupid's bow, Umbil... OMIM:615879
Desmoplastic Small Round Cell Tumor
Neoplasm of the lung, Nausea and vomiting, Abdominal pain, Abdominal distention, Ileus ORPHA:83469
Distal Monosomy 19P13.3
Keloids, Vaginal hernia, Short philtrum, Cleft palate, Umbilical hernia ORPHA:96129
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia, Short philtrum ORPHA:93945
Protuberant abdomen ORPHA:221054
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Abnormal breath sound, Elevated hepatic transaminase, Crackles, Restr... ORPHA:210136
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Diastasis recti, Umbilical hernia, Large placenta ORPHA:254534
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Gastroesophageal reflux, Abnormal pleura morphology, Pulmonary infiltr... ORPHA:183
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Rapp-Hodgkin Syndrome
Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Velopharyngeal insufficiency, Bif... OMIM:129400
Meckel Syndrome 14
Cyanosis, Retrognathia, Micrognathia, Abdominal distention, Oligohydramnios, Microretrognathia, I... OMIM:619879
Congenital Disorder Of Glycosylation, Type Ix
Feeding difficulties, Death in childhood, Respiratory distress OMIM:615597
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Pulmonary hypoplasia, Abdominal distention ORPHA:85166
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Poor suck, Long philtrum, Chronic constipation, Respiratory distress, Attention defi... OMIM:619383
Agnathia-Otocephaly Complex
Pulmonary hypoplasia, Respiratory distress, Microglossia, Narrow mouth, Tracheomalacia, Aglossia,... OMIM:202650
Familial Visceral Myopathy
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Aganglionic megaco... ORPHA:2604
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, High palate, Deep philtrum, Elevated hepatic transaminase, Respiratory distr... ORPHA:329178
Fructose-1,6-Bisphosphatase Deficiency
Vomiting, Diarrhea, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy... ORPHA:348
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Smooth philtrum, Esophageal atresia OMIM:614526
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Jaundice, Respiratory distress, Generalized aminoaciduria, Pulmonary hypoplasia, Nausea... OMIM:231680
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Malabsorption, Abdominal distention, Spontaneous esophageal p... ORPHA:1876
Dend Syndrome
Downturned corners of mouth, Vomiting, Long philtrum, Dehydration ORPHA:79134
Nager Syndrome
Non-midline cleft lip, Wide mouth, Micrognathia, Hypoplasia of the maxilla, Abnormal palate morph... ORPHA:245
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Microdontia, Microretrognathia, Hypoplasia of the maxilla, Microglossia, Narrow mout... ORPHA:1307
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Secretory diarrhea, Abdominal distention, Dehydration OMIM:214700
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate ORPHA:209908
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Micrognathia, Thin upper lip vermilion, High palate ORPHA:3304
Chylomicron Retention Disease
Vomiting, Diarrhea, Fat malabsorption, Elevated hepatic transaminase, Steatorrhea, Abdominal dist... ORPHA:71
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... OMIM:617412
Lamellar Ichthyosis
Everted lower lip vermilion, Abnormality of the dentition, Dehydration ORPHA:313
Velocardiofacial Syndrome
Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft hard palate, Inguinal hernia... OMIM:192430
Lymphatic Malformation 7
Pulmonary edema, Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax OMIM:617300
Gaucher Disease, Perinatal Lethal
Hepatic failure, Everted upper lip vermilion, Petechiae, Purpura, Respiratory distress, Pulmonary... OMIM:608013
Toxic Epidermal Necrolysis
Intestinal perforation, Abnormal pleura morphology, Recurrent respiratory infections, Nausea and ... ORPHA:537
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
N-Acetylglutamate Synthase Deficiency
Vomiting, Respiratory distress OMIM:237310
Mercury Poisoning
Episodic abdominal pain, Interstitial pneumonitis, Respiratory distress, Episodic vomiting, Anore... ORPHA:330021
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival hyperkeratosis, Hypodontia, Atrophic scars, Everted lower lip vermilion, Inguinal hernia... OMIM:225410
3-Methylglutaconic Aciduria, Type Viib
Tube feeding, Polyhydramnios, Micrognathia, Dehydration, Feeding difficulties, Trismus OMIM:616271
Idiopathic Neonatal Atrial Flutter
Feeding difficulties in infancy, Respiratory distress, Tachypnea ORPHA:45452
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Elevated hepatic transaminase, Respiratory distress, Smooth philtrum, High, narro... OMIM:608799
Lysosomal Acid Lipase Deficiency
Hepatic failure, Vomiting, Diarrhea, Nausea and vomiting, Abdominal pain, Esophageal varix, Jaund... ORPHA:275761
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Retrognathia, Polyhydramnios, Gingival cleft, Micrognathia, Bifid uvula, Submucous cleft hard pal... ORPHA:2189
Icf Syndrome
Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia ORPHA:2268
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Chromosome 6Pter-P24 Deletion Syndrome
Cleft upper lip, High palate, Abnormality of dental morphology, Anal atresia, Tented upper lip ve... OMIM:612582
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Respiratory distress, Tracheomalacia, Recurrent respi... OMIM:617180
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
High palate, Death in infancy, Irregular respiration, Respiratory distress, Feeding difficulties,... OMIM:604377
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, High palate, Poor suck, Respiratory distress, Tongue fasciculations ORPHA:1145
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, High palate, Cellulitis, Atrophic scars, Inguinal hernia, Atypical scarring of sk... OMIM:618000
Amish Lethal Microcephaly
Micrognathia, Feeding difficulties, Cleft soft palate, Death in infancy ORPHA:99742
Buerger Disease
Acrocyanosis ORPHA:36258
Hsd10 Disease, Infantile Type
Cyanosis, Abnormal circulating enzyme concentration or activity, Gastrointestinal dysmotility, Dy... ORPHA:391428
Amme Complex
Inguinal hernia, Thin upper lip vermilion, Diastasis recti, Umbilical hernia OMIM:300194
Oculocerebrorenal Syndrome Of Lowe
Respiratory insufficiency, Aminoaciduria, Gingivitis, Delayed eruption of teeth, Feeding difficul... ORPHA:534
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Dentinogenesis imperfecta, High palate, Long philtrum, Repeated pneumo... ORPHA:536467
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Gastroesophageal reflux, Pyloric stenosis, Abdominal distention OMIM:256300
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Hepatic failure, Esophageal varix, Elevated hepatic transaminase, Resp... ORPHA:367
Castleman Disease
Nausea and vomiting, Abdominal pain, Jaundice, Abdominal distention, Dyspnea, Intestinal obstruct... ORPHA:160
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Diarrhea, Pulmonary fibrosis, Respiratory failure, Feeding difficultie... OMIM:618278
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Vomiting, Diarrhea, Jaundice, Abdominal pain, Abdominal distention ORPHA:677
Harlequin Ichthyosis
Eclabion, Dehydration ORPHA:457
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Hydrops fetalis, Villous atrophy, Exocrine pancreatic insufficiency, M... OMIM:557000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, High palate, Decreased liver function, Exertional dyspnea, Respiratory distress, R... OMIM:220110
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, High palate, Deep philtrum, Feeding difficulties in infanc... ORPHA:314655
Distal Monosomy 3P
High palate, Long philtrum, Inguinal hernia, Downturned corners of mouth, Thin vermilion border, ... ORPHA:1620
Macs Syndrome
Irregular dentition, Recurrent aphthous stomatitis, High palate, Long philtrum, Eclabion, Gingiva... OMIM:613075
Ovarian Fibrothecoma
Pleural effusion, Abdominal pain, Abdominal distention ORPHA:314478
Cooper-Jabs Syndrome
Camptodactyly of finger, Anteriorly placed anus, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1488
Craniofacial-Deafness-Hand Syndrome